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LINK TO ARTICLE IN BOSTON GLOBE

The annual Boston Globe Rare Disease Day Summit is a day of curated, in-person thought leadership addressing how Boston companies are tackling rare diseases and helping patients who are afflicted by them. Over 1,000 were expected to attend this virtual event on February 24, 2026.

During the morning session, Mackenzie and Deb Boedicker from Mackenzie’s Mission joined Gianluca Pirozzi from Alexion for a panel session titled “Living It, Leading It: When Lived Rare Disease Experience Becomes Professional Purpose”

Many patients, caregivers and professionals in the rare disease community often carry their personal experiences into their work, influencing how they approach care, advocacy, research and industry. This panel centered on shared lived experience as a catalyst for purpose and action across the rare disease ecosystem. Featuring perspectives from a patient turned healthcare provider, a parent and nonprofit leader, and an industry executive and caregiver, panelists will share how lived experience has shaped their professional paths. Through personal stories, the discussion explored where the system continues to fall short and what must change to create a more connected and responsive future for rare disease patients and their families.

As the lead sponsor of this event, it was an opportunity to highlight Alexion’s leadership and commitment to advancing rare disease care, while connecting directly with the people whose lives are shaped by this work. Thank you, Alexion!

The American Society of Hematology (ASH) has released new Clinical Practice Guidelines on the diagnosis of light chain (AL) amyloidosis, a rare and life-threatening bone marrow disorder. The guidelines present 12 evidence-based recommendations designed to help clinicians and facilitate early and accurate diagnosis of AL amyloidosis. Participating in the two-year research was a large group of multi-disciplinary amyloidosis experts, as well as Deb Boedicker from Mackenzie’s Mission/Amyloidosis Speakers Bureau. Below we summarize the 12 recommendations, followed by a link to the full publication. In addition, at the end you’ll find a link to a comprehensive Resource Center which support these Clinical Practice Guidelines.

The primary goals of these guidelines are to review, critically appraise and implement evidence-based recommendations that will enhance early detection, timeliness and accuracy of diagnosis of AL amyloidosis. Through improved provider and patient education of the available evidence and creation of evidence-based recommendations, these guidelines aim to provide clinical decision support that will result in clear diagnostic decision making with known potential outcomes and enable timely diagnosis of AL amyloidosis by multidisciplinary teams.

ENHANCING CLINICAL SUSPICION

Should serum and urine immunofixation (SIFE and UIFE) and serum free light chains (sFLC) be used to increase suspicion of AL amyloidosis in individuals with cardiac symptoms?
Recommendation 1
For individuals with suspected cardiac amyloidosis, the ASH Guideline Panel recommends the use of serum and urine immunofixation (SIFE and UIFE) and serum free light chain (sFLC) assay to increase clinical suspicion of cardiac AL amyloidosis.

Should serum and urine immunofixation (SIFE and UIFE) and serum free light chains (sFLC) be used to increase suspicion of AL amyloidosis in individuals with unexplained proteinuria?
Recommendation 2
For individuals with unexplained proteinuria, the ASH Guideline Panel suggests performing paraprotein testing (SIFE/UIFE/sFLC) to increase clinical suspicion of AL amyloidosis.

Should cardiac MRI (CMR) be used to diagnose cardiac AL amyloidosis in individuals suspected of having cardiac amyloidosis (positivity in any of the following studies: SIFE, UIFE, or sFLC, abnormal cardiac biomarkers, and non-diagnostic echocardiographic findings)?
Recommendation 3
For individuals with positivity in any of the following studies SIFE, UIFE, or sFLC, and abnormal cardiac biomarkers, and non-diagnostic echocardiography, the ASH Guideline Panel suggests performing cardiac magnetic resonance (CMR) rather than not performing CMR to increase clinical suspicion of cardiac amyloidosis.

Should cardiac MRI (CMR) be used to diagnose cardiac AL amyloidosis in individuals with abnormal cardiac biomarkers, echocardiography, and positivity in any of the following studies: SIFE, UIFE, or sFLC?
Recommendation 4
For individuals with positivity in any of the following studies SIFE, UIFE, or sFLC, and abnormal cardiac biomarkers, and echocardiography consistent with amyloidosis, the ASH Guideline Panel suggests against performing cardiac magnetic resonance (CMR) and instead performing tissue biopsy to diagnose cardiac AL amyloidosis.

DIAGNOSIS

Should Bone Scintigraphy with technetium 99m – pyrophosphate (PYP), technetium 99 m – 3, 3 diphosphono –1,2 propranodicarboxylic (DPD) and technetium 99 m-hydroxymethylene Diphosphonate (HMDP) be used to diagnose amyloidosis in suspected individuals?
Recommendation 5
For individuals with a suspicion of AL amyloidosis, the ASH Guideline Panel recommends against the use of bone scintigraphy (PYP, DPD, HMDP) for the diagnosis of AL cardiac amyloidosis.

Should Bone Scintigraphy (PYP, DPD, HMDP) be used to diagnose ATTR amyloidosis in suspected individuals?
Recommendation 6
For patients without evidence of a plasma cell disorder (normal serum free light chain levels and no monoclonal proteins on serum and urine immunofixation) and suspicion of cardiac amyloidosis, the ASH Guideline Panel recommends the use of bone scintigraphy (PYP, DPD, HMDP) for the diagnosis of Cardiac ATTR amyloidosis.

Should surrogate biopsy vs. cardiac biopsy be used to diagnose AL amyloidosis in individuals suspected to have cardiac amyloidosis?
Recommendation 7
For individuals with suspected AL cardiac amyloidosis with abnormal cardiac biomarkers, diagnostic echocardiogram, and positivity in any of the following studies: SIFE, UIFE, or sFLC, the ASH Guideline Panel suggests either starting with performing both fat pad sampling and bone marrow biopsy or with endomyocardial biopsy.

Should surrogate biopsy vs renal biopsy be used to diagnose AL amyloidosis in individuals suspected to have renal amyloidosis?
Recommendation 8
For individuals with suspected light chain renal amyloidosis and positivity in any of the following studies SIFE, UIFE, or sFLC, the ASH Guideline Panel suggests starting with performing both abdominal fat pad sampling and bone marrow biopsy over renal biopsy.

Should surrogate biopsy vs. peripheral nerve biopsy be used to diagnose AL amyloidosis in individuals suspected to have neurological amyloidosis?
Recommendation 9
For individuals with a monoclonal gammopathy and generalized small or large fiber peripheral neuropathy or autonomic neuropathy suspected of having AL amyloidosis, the ASH Guideline Panel suggests performing both fat pad sampling and bone marrow biopsy over nerve biopsy.

Should surrogate biopsy vs target organ biopsy be used to diagnose AL amyloidosis in individuals suspected to have AL amyloidosis with multiorgan presentation?
Recommendation 10
For individuals with suspected multiorgan AL amyloidosis, the ASH Guideline Panel suggests starting with surrogate biopsies (combination of fat pad sampling and bone marrow biopsy) over target organ biopsy if surrogate biopsies can be performed expeditiously. If endomyocardial biopsy or renal biopsy are more feasible than fat pad sampling and bone marrow biopsy, these symptomatic target tissues should be preferentially biopsied.

Should Congo Red Staining on bone marrow biopsy that has already been performed be used to diagnose AL amyloidosis in individuals with Multiple Myeloma and Smoldering Myeloma?
Recommendation 11
For individuals with plasma cell dyscrasias (multiple myeloma and smoldering multiple myeloma), the ASH Guideline Panel suggests performing Congo red staining on bone marrow biopsies that may have already been performed.

ORGAN INVOLVEMENT

In individuals with AL amyloidosis with no cardiac symptoms, should clinicians use cardiac biomarkers/investigations [BNP, NT-proBNP, troponin (I,C,T, Highly Sensitive), 2D Echo with strain, Cardiac MRI] or not to evaluate for cardiac involvement?
Recommendation 12
For individuals with proven AL amyloidosis and with no cardiac symptoms, the ASH Guideline Panel recommends performing cardiac biomarkers (high sensitivity troponin, and BNP or NT-proBNP) and cardiac imaging rather than not performing these tests to define the presence and extent of cardiac involvement at diagnosis.

KEY CONCLUSIONS

The use of serum immunofixation, urine immunofixation and serum free light chains enhances the clinical suspicion of AL amyloidosis. The diagnosis of AL amyloidosis can be made effectively through surrogate biopsies which require both a bone marrow biopsy and fat pad sampling. However, target organ biopsies may be favoured in certain clinical situations.

Overarching good practice statements:
1. The ASH panel agreed that it is essential to assess for major organ involvement in patients with confirmed AL amyloidosis, as this guides further management and risk stratification.
2. A multidisciplinary team is typically required for the timely and accurate diagnosis and management of AL amyloidosis.

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The red flag signs and symptoms provide a summarized way to elevate suspicion and hopefully accelerate the diagnostic timeline.

RED FLAG SIGNS AND SYMPTOMS FOR CARDIAC INVOLVEMENT

HFpEF (heart failure with preserved ejection fraction)
Moderate or Severe LVH in absence of a significant history of untreated hypertension on imaging.
Echocardiogram: Severe left ventricular hypertrophy, advanced diastolic dysfunction, reduced left ventricular global longitudinal strain with an apical sparing pattern
EKG/Arrhythmia: Low voltage and/or discordance between voltage on EKG and left ventricular wall thickness on imaging, pseudo-infarct pattern, and arrhythmias including atrial fibrillation, heart block, and ventricular tachycardia/ventricular fibrillation
Elevated biomarkers (Troponin and NT-Pro BNP) in absence of CAD
Constellation of symptoms suggesting cardiac, renal, and peripheral nervous system disease
Low Flow, Low Gradient Aortic Stenosis

RED FLAG SIGNS AND SYMPTOMS FOR RENAL INVOLVEMENT

Inability to tolerate ACE/ARB
Change in hypertension status unexplained by medication i.e. intolerance/hypotension on previously tolerated therapy.
Unexplained proteinuria (albumin predominant) without diabetes (or not thought to be related to be diabetes or any other reason) and positive laboratory tests (monoclonal proteins and/or abnormal light chains (must be clonal or above renal limits)
Proteinuria in diabetic with positive monoclonal protein

RED FLAG SIGNS AND SYMPTOMS FOR NEUROLOGICAL INVOLVEMENT

Small fiber neuropathy: pain and temperature impairments, allodynia and hyperalgesia
Autonomic neuropathy: orthostatic hypotension, erectile dysfunction, diarrhea and/or constipation, gastroparesis, urinary dysfunction, sweating abnormalities, pupillary dysfunction and dry eye and mouth.
Sensorimotor neuropathy: numbness, paresthesia, imbalance, weakness and atrophy.
Autonomic, Small fiber or sensorimotor neuropathy unexplained by other causes, including diabetes.
Abnormal nerve conduction studies/ electromyography, typically a sensory or sensorimotor neuropathy with axonal pattern.
Carpal Tunnel Syndrome – bilateral, particularly with heart disease and a monoclonal protein
Peripheral neuropathy with positive monoclonal gammopathy
Rapid progression of neuropathy
Constellation of symptoms suggesting cardiac, renal, and peripheral nervous system disease

RED FLAG SIGNS AND SYMPTOMS – OTHER

Liver Presentation

Cholestatic (associated with raised serum alkaline phosphatase) not related to other disorders.
Hepatomegaly not related to other disorders.

Gastrointestinal tract Presentation

Unexplained diarrhea and/or constipation, weight loss, loss of appetite, early satiety, nausea, vomiting, abdominal pain, gastrointestinal bleeding

Other

Easy Bleeding and bruising (associated with acquired factor X deficiency)

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LINK TO PUBLICATION IN BLOOD ADVANCES

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In addition, ASH provides a comprehensive Resource Center to support the Clinical Practice Guidelines. In this center, clinicians will find a significant library of resources including the following.

A snapshot of the ASH Clinical Practice Guidelines — “Diagnosis of Light Chain (AL) Amyloidosis: What You Should Know”
- What it covers
- Why it matters
- Who it affects
- What are the highlights
A Disease State Infographic
A Visual Summary: a concise visual aid intended to support understanding of the recommendations and to aid in clinical decision-making.
A Pocket Guide: a brief, evidence-based pocket guide intended to help physicians provide quality care to patients.
Teaching Slides: educational slides intended to teach about the diagnosis of amyloidosis.
Audit Report: A set of metrics intended to assess compliance with the ASH Clinical Practice Guidelines on Diagnosis of Light Chain Amyloidosis. This audit report can be used to identify quality gaps at your institution and improve care for patients with light chain amyloidosis.

LINK TO RESOURCE CENTER

The Amyloidosis Speakers Bureau (ASB) is recognized as a leader in enhancing medical education and awareness, starting in medical school and continuing through fellowship, which is essential for improving early disease recognition.

In an editorial comment titled “Delayed Diagnosis of Transthyretin Amyloid Cardiomyopathy in the Modern Era: Seeing the Forest through the Trees” published in the JACC on January 7, 2026 by Melissa A. Lyle, MD and Jose N. Nativi-Nicolau, MD of the Mayo Clinic, the ASB received a powerful recognition in support of our medical education initiative.

The editorial commented on the recent transformation in the field of amyloid cardiomyopathy. It references a comprehensive retrospective analysis leveraging data from the Veterans Health Administration, the nation’s largest integrated health care system, to examine diagnostic patterns in patients with heart failure (HF) and ATTR-CM between 2016 and 2022. This study underscores a critical gap: Even within a highly integrated health system with access to diagnostic tools and longitudinal data, under-recognition and delayed diagnosis of ATTR-CM remain pervasive.

“Why does diagnostic delay matter so much? Although it may seem less urgent given that patients are eventually diagnosed and ATTR-CM is generally considered a more indolent condition than amyloid light-chain amyloidosis, the clinical impact of delayed diagnosis is significant. Studies have shown that even a delay of 3 months can result in patients presenting with a higher NYHA classification, indicating more advanced disease at the time of diagnosis.⁸ Most importantly, we now have 3 U.S. Food and Drug administration–approved therapies for ATTR-CM that not only extend survival but also reduce HF hospitalizations and improve quality of life. Crucially, these treatments are most effective when initiated in the earlier stages of disease. With this growing arsenal of disease-modifying therapies, timely diagnosis is no longer just ideal, it is imperative.

To reduce diagnostic delays and shift clinical focus from treating isolated comorbidities to the broader picture, we must begin to “see the forest” instead of just the trees. Three strategies may help. First, enhancing education and awareness, starting in medical school and continuing through fellowship, is essential for improving early recognition. Advocacy organizations like the Amyloidosis Speakers Bureau, a nonprofit entity dedicated to educating medical trainees and early-career clinicians, lead the way with raising awareness among providers.⁹ Second, clinicians should more consistently apply existing diagnostic tools, such as the ATTR-CM score,¹⁰ to avoid overlooking amyloidosis in patients with HFpEF. Third, integrating artificial intelligence into diagnostic workflows could identify potential cases by identifying red flags, within electronic medical records, prompting consideration of cardiac amyloidosis alongside common comorbidities such as atrial fibrillation, coronary artery disease, and chronic kidney disease. If we do not think of amyloidosis, we will not diagnose it. In 2025, we have the tools to identify and treat ATTR-CM. We just need to look up from the trees in time to recognize the forest, often hiding in plain sight.”

This was our eighth full year of operation. We were busy with lots of activities to advance our mission to make a difference in the fight against Amyloidosis. Operationally, we continued to run extremely efficient and lean, and laser-focused on making a difference in multiple ways.

Raising Awareness about Amyloidosis, which we know can lead to earlier diagnosis, starting treatments sooner, and better outcomes for patients.
Supporting medical research on Amyloidosis, seeking to understand more, develop better and less invasive diagnostic approaches, and develop more effective treatments, all of which will improve and extend lives.

PART I – RAISING AWARENESS

The first part of our mission is raising awareness.

Amyloidosis Speakers Bureau (ASB)

In February 2019 we launched the Amyloidosis Speakers Bureau as the cornerstone of our education effort, focused on closing the medical education gap. It is a direct outreach with live presentations by patient educators, done both virtually and in-person. In addition, each presentation has a clinical discussion about amyloidosis. Thus overall, every presentation has well-rounded and impactful content to educate the audience.

Amyloidosis is considered a rare disease and is not well known. However, there is a belief within the medical community that this disease is not rare, it is underdiagnosed or diagnosed when it is too late to make a difference. The complexity of this disease makes diagnosis one of the biggest challenges affecting patient lives. It is not uncommon to hear from patients that it took multiple years and multiple doctors to ultimately arrive at a correct diagnosis, all the while the disease continues to progress. Until a cure is found, it is imperative to raise awareness within the medical community to close this educational gap so that a diagnosis can be determined much sooner, enabling effective treatments and therapies to slow the disease progression and improve patient survival.

Our response to this crisis is the Amyloidosis Speakers Bureau (ASB), an initiative focused on educating the medical community and closing the education gap about this disease through presentations from amyloidosis patients, a clinical discussion from a medical expert, and our monthly educational updates. Our target audience is future providers (e.g., the next generation of doctors during their first/second year of medical school, and PA students), as well as current medical providers (e.g., internal medicine residency programs for physicians launching their medical career). In 2025 we expanded to include hand surgery residency programs, focusing on that early red flag of orthopedic manifestations. Looking forward we are furthering our outreach to include PM&R and GI residency programs.

During 2025, we gave 85 presentations to over 5,400 future and current medical providers. Since we began in the fall of 2019, we have given over 475 presentations to more than 25,000 future and current medical providers! We also are proud to be educating a wide array of specialties who might encounter amyloidosis patients, and every year another medical school cohort graduates – numbering 3,000+, entering the clinical world of practicing medicine and diagnosing patients. Our impact is deepening and continuing to grow.

Amyloidosis Lecture Series

Launched late 2023, we created a lecture series of Expert Insights Into Amyloidosis composed of short educational videos from our ASB Advisors. Developed for our medical student/resident audience, we have found that our patient community is also finding value in these videos. These short videos continue to be a massive hit. We continue to add to the series, and collectively, these videos have amassed over 90,000 views. Shockingly awesome! To view, visit the Education hub of our website and click on the “Expert Insights” category.

All Things Amyloid podcast

Over a year ago we launched the first dedicated amyloidosis podcast titled “All Things Amyloid.” Found on major podcast platforms, our website, and our YouTube channel, in our episodes we speak with patients and caregivers on a wide array of topics. We also hear from amyloidosis experts about the medical side of this disease. Our 32 short bi-weekly episodes have amassed over 11,000 downloads! To see our episodes, visit our podcast website HERE.

Digital Education Initiative

Knowing the critical importance of raising awareness of this disease, it became evident to us that it was a good time to launch a digital initiative to far extend our reach. On June 1, 2024 we launched a targeted educational initiative on our three social media platforms (Facebook, LinkedIn, and X), and a Google search program. Focused topics include cardiac symptoms, west African heritage, extreme fatigue, and carpal tunnel syndrome. Since we began, we have garnered over 69.7 million impressions!

Continuing Medical Student Education

After every presentation we invite students interested in continuing to learn about amyloidosis to join our ASB Briefs mailing list. Today, that list numbers over 1,100! Each month we send a brief discussion about some aspect of the disease with a growing library of links to informative presentations / videos by medical experts, and announcements regarding advancements in treatment. The intention is to keep amyloidosis more front-of-mind and educate on the many facets of this complex and multi-systemic disease.

PART II – ADVANCING MEDICAL RESEARCH

The second part of our mission is to help advance research. Research is at the core of developing new therapies to improve patient lives. Patients benefit from research through early access to novel therapies, new tests for earlier/easier diagnosis, and new approved treatments. However, research is expensive, takes many years, and is absolutely critical to the deepening of knowledge fueling these advancements. And while significant progress continues to be made, much more needs to be done.

No progress in the fight against this disease happens without funding, and the NIH provides a mere fraction of what is needed. Researchers require money to run their labs, maintain bio banks, purchase equipment, run clinical trials, and more. To operate, they rely on private foundations (like Mackenzie’s Mission), grants, and individual donors.

Each year, a portion of our budget goes towards advancing research. We are grateful for the support received from donors like you and fundraisers, and proud that collectively these funds are changing the therapeutic landscape and benefiting patients.

In 2025, our donations pushed us over the $1,875,000 threshold for total money donated!

WITH MUCH APPRECIATION AND GRATITUDE

This last year you may have donated cash or securities, sponsored a Facebook fundraiser, supported us during Giving Tuesday, or given us a grant to support our Amyloidosis Speakers Bureau (ASB) medical education initiative. You may have been an ASB patient educator, liked/shared our social media posts, been a guest on or subscribed to our All Things Amyloid podcast, or taken the time to read our posts or newsletter to learn about what’s going on in our community. Whether you did one or many of these, you helped us push forward our fight against this disease and we appreciate your support!

We also want to extend a special thank you to our volunteers (including Linda, Liz, Kathy, Sean, Rayna, Trent, and others!) who passionately and graciously devote their time and expertise. They help our efforts across many aspects of our operations, from management, to speaker development, to research, to graphics/marketing, and video production. Their dedication to our effort is a testament to their belief in what we are doing and we thank them all!

I am encouraged by the impact Mackenzie’s Mission continues to make after just eight short years. Connecting with the amyloidosis community and working together to make an impact is extremely rewarding. There is much work to be done, but with so much help from the community and our supporters I know we can win this fight!

With warm regards for a wonderful and hopeful 2026,

Mackenzie

AN UPDATE ON ME

This past year was a busy one! Mackenzie’s Mission and the Amyloidosis Speakers Bureau advanced many important projects, building the foundation for an exciting future. Outside of the foundation, I am working as an Inpatient Physician Assistant at Dana-Farber Cancer Institute in Boston and am fortunate to continue my travels exploring the world. As for my disease, I am monitored closely, and my disease continues to remain under control. I feel great!

The Chicago College of Osteopathic Medicine (CCOM) held a patient panel about amyloidosis, a rare disease where abnormal proteins build up in different tissues and organs. The patient panel was an opportunity for medical students to increase their awareness of amyloidosis and hear a patient’s experience living with the rare disease. According to the Amyloidosis Foundation, there are less than 200,000 people in the U.S. who have been diagnosed with amyloidosis.

George Borrelli, D.O., Chair, Clinical Integration, CCOM, welcomed the audience to the patient panel and discussed the importance of the supplemental learning opportunity for the students. “It gives you an opportunity to not only learn about a disease, but to get an account from a patient who has actually gone through the situation.” Dr. Borrelli elaborated, “The earlier this disease is diagnosed, the better the outcomes are. For so many years, this disease has been an enigma, difficult to diagnose, and slipped through many clinicians’ fingers.”

Liz Schwartz, who is living with amyloidosis, visited Midwestern University and shared her experience with the rare disease. Liz is a patient educator with the Amyloidosis Speakers Bureau.

Medical students at the Chicago College of Osteopathic Medicine (CCOM) experienced a unique opportunity to hear firsthand from a patient living with a rare and complex disease. The amyloidosis patient panel gave first- and second-year students the chance to ask questions, gain insights beyond textbooks, and better understand the impact of delayed diagnosis.

We are grateful to Dr. George Borrelli and Paula Kolodziej for inviting us year after year. The link below is to the full article published by Midwestern University.

https://www.midwestern.edu/news-stories/ccom-hosts-patient-panel-rare-disease-amyloidosis

Co-author Dr. Adebanke Adebayo presented our recent research about the ASB at the DC Health Communication Conference.

Our research topic:

Amyloidosis Speakers Bureau (ASB) patient narratives: Impact on information seeking behaviors among medical students

Background: According to Newman-Toker, et al. (2023), misdiagnosis–including missed, delayed, and wrong diagnoses–leads to an estimated 371,000 deaths and 424,000 permanent disabilities in the United States each year. In response to these alarming statistics, the Centers for Disease Control and Prevention (CDC, 2024), released a diagnostic toolkit that contains sections for patients, families, and caregivers. One difficult-to-diagnose disease is amyloidosis, a protein-misfolding disease. It’s hard to diagnose in part because it manifests in a variety of organs and its symptoms are similar to those of many other diseases, symptoms such as fatigue, shortness of breath, etc. In this study, patient engagement was highlighted as crucial to a correct diagnosis. Using Amyloidosis Speakers Bureau (ASB) patient educator presentations, this study explores the impact of patient educator presentations on information-seeking behaviors among medical students. The theoretical frameworks used to support this study are narrative and persuasion theories.

Methods: The Amyloidosis Speakers Bureau (ASB) arranges for amyloidosis patients to speak about their diagnostic and treatment experiences with U. S. medical students. Using a survey of U.S. medical students (N=1,634) and ASB health information mailings (N=50), we hypothesized that patients’ narratives about their diagnostic and treatment journeys would positively impact medical students’ information seeking behaviors about this disease.

Results: Participants who listened to an ASB patient speaker had significant higher means on information seeking behaviors, including the voluntary decision to sign-up to receive additional information from the ASB mailing list. Similarly, participants who listened to an ASB patient speaker were significantly more likely to open email information about amyloidosis–52.74%, than were people who received emailed health information from other organizations using distribution services like Mailchimp–20%.

Conclusions: Listening to a patient’s narrative presentation was associated with a high open rate for periodically emailed information on amyloidosis research by medical students who signed up to receive this information. We believe this study adds to the growing call-to-action to integrate patient narratives into medical curricula through platforms like the ASB. Future longitudinal studies should be conducted to explore the outcomes reported in this study over longer time frames.

AMVUTTRA^® (vutrisiran) was approved by the FDA in March 2025 for the treatment of the cardiomyopathy of wild-type or hereditary transthyretin-mediated amyloidosis (ATTR-CM) in adults to reduce cardiovascular mortality, cardiovascular hospitalizations and urgent heart failure visits.

The approval expands the indication for AMVUTTRA, which now becomes the first and only therapeutic approved by the FDA for the treatment of ATTR-CM and the polyneuropathy of hereditary transthyretin-mediated amyloidosis (hATTR-PN) in adults.

“AMVUTTRA is an RNAi therapeutic that works upstream to deliver rapid knockdown of TTR, addressing the disease at its source, with only four convenient subcutaneous doses per year. By rapidly knocking down TTR production, AMVUTTRA substantially decreases deposition of TTR fibrils, which form amyloid and cause irreversible cardiovascular damage and premature death in patients with ATTR-CM.” according to Alnylam’s press release.

Amvuttra

PRESS RELEASE

The Amyloidosis Speakers Bureau (ASB), founded in 2019, arranges for ASB patient educators to speak about their diagnostic and treatment experiences with medical students. In 2023, we published a study to understand the impact from the addition of the patient voice to didactic medical education. The study concluded that listening to an ASB patient educator’s narrative was associated with positive attitudes toward communication with patients, interest in acquiring and applying knowledge of amyloidosis, and humility about diagnosis. Post-publishing, continued analysis of the presentation feedback made it clear that another benefit was occurring. During the ASB presentations, questions were repeatedly raised about what guidance the patients might offer to help these budding doctors become better providers and how they could improve their relationships with patients. Their inquiries had nothing to do with amyloidosis and were relevant to every interaction and all diseases. These future providers wanted to be better and wanted the patient’s perspective to help get there. Assessing their questions revealed an unexpected benefit from the patient presentations.

LINK TO ARTICLE

This was our seventh full year of operation. We were busy with lots of activities to advance our mission to make a difference in the fight against Amyloidosis. Operationally, we continued to run extremely efficient and lean, and laser-focused on making a difference in multiple ways.

Raising Awareness about Amyloidosis, which we know can lead to earlier diagnosis, starting treatments sooner, and better outcomes for patients.
Supporting medical research on Amyloidosis, seeking to understand more, develop better and less invasive diagnostic approaches, and develop more effective treatments, all of which will improve and extend lives.

RAISING AWARENESS

The first part of our mission is raising awareness, for both patients and the medical community.

Amyloidosis Speakers Bureau (ASB)

Back in February 2019 we launched the Amyloidosis Speakers Bureau as the cornerstone of our education effort, focused on closing the medical education gap. It is a direct outreach with live presentations by patient educators, done both virtually and in-person. In addition, each presentation has a clinical discussion about amyloidosis. Thus overall, every presentation has well-rounded and impactful content to educate the audience.

During 2024, we gave 86 presentations to over 5,100 future and current medical providers. Since we began in the fall of 2019, we have given over 375 presentations to over 19,500 future and current medical providers! We also are proud to be educating a wide array of specialties who might encounter amyloidosis patients, and every year another medical school cohort graduates – numbering 3,000+, entering the clinical world of practicing medicine and diagnosing patients. Our impact is deepening and continuing to grow.

Amyloidosis Lecture Series

Launched late 2023, we created a lecture series of Expert Insights Into Amyloidosis composed of short educational videos from our ASB Advisors. Developed for our medical student/resident audience, we have found that our patient community is also finding value in these videos. These 10-15 minute videos have thus far proven to be a massive hit. We continue to add to the series at least monthly, and collectively, these videos have amassed over 75,000 views. Shockingly awesome! To view, visit the Education hub of our new website and click on the “Expert Insights” category.

All Things Amyloid podcast

On October 30, 2024 we launched the first dedicated amyloidosis podcast titled “All Things Amyloid.” Found on major podcast platforms, our website, and our YouTube channel, in our episodes we speak with patients and caregivers on a wide array of topics. We also hear from amyloidosis experts about the medical side of this disease. These are short episodes with bi-weekly drops, our initial seven episodes have amassed over 2,100 downloads! To listen to our episodes, visit our podcast website HERE.

Digital Education Initiative

Knowing the critical importance of raising awareness of this disease, it became evident to us that it was a good time to launch a digital initiative to far extend our reach. On June 1, 2024 we launched a targeted educational initiative on our three social media platforms (Facebook, LinkedIn, and X), and a Google search program. Focused topics include cardiac symptoms, west african heritage, extreme fatigue, and carpal tunnel syndrome. After our first six months we have garnered over 14.4 million impressions!

Continuing Medical Student Education: After every presentation we invite students interested in continuing to learn about amyloidosis to join our ASB Briefs mailing list. Today, that list numbers over 1,000! Each month we send a brief discussion about some aspect of the disease with a growing library of links to informative presentations / videos by medical experts, and announcements regarding advancements in treatment. The intention is to keep amyloidosis more front-of-mind and educate on the many facets of this complex and multi-systemic disease.

ADVANCING MEDICAL RESEARCH

In 2024, our donations pushed us over the $1,500,000 threshold for total money donated!

WITH MUCH APPRECIATION AND GRATITUDE

This past year you may have donated cash or securities, sponsored a Facebook fundraiser, supported us during Giving Tuesday, or given us a grant to support our Amyloidosis Speakers Bureau (ASB) medical education initiative. You may have been an ASB patient educator, liked/shared our social media posts, been a guest on or subscribed to our All Things Amyloid podcast, or taken the time to read our posts or newsletter to learn about what’s going on in our community. Whether you did one or many of these, you helped us push forward our fight against this disease and we appreciate your support!

I am encouraged by the impact Mackenzie’s Mission continues to make after just seven short years. Connecting with the amyloidosis community and working together to make an impact is extremely rewarding. There is much work to be done, but with so much help from the community and our supporters I know we can win this fight!

With warm regards for a wonderful and hopeful 2025,

Mackenzie

AN UPDATE ON ME

This past year was a busy one! Mackenzie’s Mission and the Amyloidosis Speakers Bureau accomplished many important projects, laying the foundation for an exciting future. Outside of the foundation, I am now a PA-C, having graduated from the Physician Assistant Program at Northeastern University. Starting March 2025, I will be working as an Inpatient Physician Assistant at Dana-Farber Cancer Institute in Boston. As for my disease, I am monitored closely, and my disease continues to remain under control. I feel great!

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Turning Uncertainty Into Impact

Rare Disease Summit 2026

Light Chain (AL) Amyloidosis Clinical Practice Guidelines – American Society of Hematology 2026

ASB Recognized as Leader in Early Medical Education

2025: Mackenzie’s Mission – Our Report Card

CCOM Hosts Patient Panel on Rare Disease Amyloidosis

ASB Research Presented at DC Health Communication Conference!

AMVUTTRA is now FDA-APPROVED for ATTR-CM in U.S.

An Unexpected Benefit of Adding the Patient Voice to Medical Education—Train Providers to Be Better

LINK TO ARTICLE

2024: Mackenzie’s Mission – Our Report Card

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LINK TO ARTICLE

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